Mutagenetix > Incidental Mutation

Incidental Mutation 'R7196:Gpd1'

559970

Institutional Source

Beutler Lab

Gene Symbol

Gpd1

Ensembl Gene

ENSMUSG00000023019

Gene Name

glycerol-3-phosphate dehydrogenase 1 (soluble)

Synonyms

Gdc1, Gdc-1

MMRRC Submission

045275-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99615468-99622895 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99619936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 245 (G245C)

Ref Sequence

ENSEMBL: ENSMUSP00000023760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023760] [ENSMUST00000023761] [ENSMUST00000162194]

AlphaFold

P13707

Predicted Effect

probably benign
Transcript: ENSMUST00000023760
AA Change: G245C

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023760
Gene: ENSMUSG00000023019
AA Change: G245C

Domain	Start	End	E-Value	Type
Pfam:NAD_Gly3P_dh_N	5	174	6.2e-57	PFAM
Pfam:NAD_Gly3P_dh_C	193	340	8.5e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023761

SMART Domains

Protein: ENSMUSP00000023761
Gene: ENSMUSG00000023020

Domain	Start	End	E-Value	Type
Pfam:COX14	1	55	1.4e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162194
AA Change: G222C

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125164
Gene: ENSMUSG00000023019
AA Change: G222C

Domain	Start	End	E-Value	Type
Pfam:NAD_Gly3P_dh_N	5	77	3.6e-21	PFAM
Pfam:NAD_Gly3P_dh_N	71	151	1.9e-22	PFAM
Pfam:NAD_Gly3P_dh_C	169	319	4.2e-60	PFAM

Meta Mutation Damage Score

0.5202

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (94/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a spontaneous mutation are viable and phenotypically normal but show loss of glycerol-3-phosphate dehydrogenase 1 activity in adult tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,165,505 (GRCm39)		probably null	Het
4921504E06Rik	A	C	2: 19,498,806 (GRCm39)	S396A	probably benign	Het
Actr6	C	A	10: 89,550,784 (GRCm39)	V337F	possibly damaging	Het
Agtpbp1	T	C	13: 59,680,994 (GRCm39)	T73A	possibly damaging	Het
AI182371	A	T	2: 34,976,441 (GRCm39)		probably null	Het
Apob	A	G	12: 8,033,893 (GRCm39)	E202G	possibly damaging	Het
Asb4	A	T	6: 5,423,356 (GRCm39)	M168L	probably benign	Het
AU018091	T	C	7: 3,213,788 (GRCm39)	Y152C	probably damaging	Het
Casp3	G	A	8: 47,088,498 (GRCm39)	G132R	possibly damaging	Het
Cbfa2t3	C	A	8: 123,365,729 (GRCm39)	A229S	probably benign	Het
Cdh23	A	T	10: 60,143,759 (GRCm39)	Y2949N	probably damaging	Het
Ceacam3	T	C	7: 16,888,881 (GRCm39)	Y217H		Het
Cldn5	A	T	16: 18,595,630 (GRCm39)		probably benign	Het
Cltc	T	C	11: 86,597,657 (GRCm39)	D1093G	probably damaging	Het
Cnn3	G	A	3: 121,248,437 (GRCm39)		probably null	Het
Col4a2	A	G	8: 11,448,693 (GRCm39)	Y71C	probably damaging	Het
Csf1	T	C	3: 107,661,214 (GRCm39)	D77G	possibly damaging	Het
Cyp2j7	T	A	4: 96,103,651 (GRCm39)	T295S	probably benign	Het
Dnah7a	A	T	1: 53,724,000 (GRCm39)	M133K	probably benign	Het
Dock5	G	A	14: 67,993,919 (GRCm39)	P1852L	probably damaging	Het
Dpysl3	T	A	18: 43,462,910 (GRCm39)	D489V	probably damaging	Het
Dsg4	T	C	18: 20,599,537 (GRCm39)	Y718H	probably damaging	Het
Dync2h1	G	A	9: 7,147,715 (GRCm39)	Q972*	probably null	Het
Epn1	G	A	7: 5,096,380 (GRCm39)	D225N	possibly damaging	Het
Esp4	A	G	17: 40,913,256 (GRCm39)	E41G	probably benign	Het
Fam171a2	T	C	11: 102,329,172 (GRCm39)	D529G	probably benign	Het
Fbxl13	A	T	5: 21,691,301 (GRCm39)	I694N	probably damaging	Het
Fshr	C	T	17: 89,292,897 (GRCm39)	A594T	probably damaging	Het
Galnt3	A	G	2: 65,921,268 (GRCm39)	Y533H	probably damaging	Het
Gja5	C	A	3: 96,958,422 (GRCm39)	R160S	probably damaging	Het
Gm12353	A	T	4: 19,608,938 (GRCm39)	D7V	unknown	Het
Gm17669	T	C	18: 67,695,572 (GRCm39)	F39S	probably damaging	Het
Gm7145	T	A	1: 117,913,791 (GRCm39)	N224K	possibly damaging	Het
Gpr4	G	A	7: 18,957,089 (GRCm39)	G337D	probably benign	Het
Hgd	G	A	16: 37,409,078 (GRCm39)	C14Y	probably benign	Het
Ibtk	A	T	9: 85,625,709 (GRCm39)	S14T	probably damaging	Het
Ifi205	G	T	1: 173,854,109 (GRCm39)	N181K	probably damaging	Het
Inppl1	G	A	7: 101,477,993 (GRCm39)	A673V	probably benign	Het
Itgb3	C	A	11: 104,524,438 (GRCm39)	Y191*	probably null	Het
Jrkl	G	T	9: 13,244,162 (GRCm39)	P500T	probably benign	Het
Kcnq1	G	A	7: 142,912,478 (GRCm39)	V515I	possibly damaging	Het
Kifc3	A	G	8: 95,833,239 (GRCm39)	V453A	probably benign	Het
Krt10	C	T	11: 99,278,371 (GRCm39)	E263K	probably damaging	Het
Lingo1	A	T	9: 56,527,903 (GRCm39)	F235I	probably damaging	Het
Lmo7	T	A	14: 102,133,936 (GRCm39)	D660E	possibly damaging	Het
Magi3	A	C	3: 103,956,484 (GRCm39)	C661W	probably benign	Het
Mmp1a	C	T	9: 7,476,018 (GRCm39)	Q428*	probably null	Het
Msrb1	A	T	17: 24,958,556 (GRCm39)	T47S	probably benign	Het
Naip6	A	T	13: 100,436,666 (GRCm39)	I619K	probably benign	Het
Ndfip2	T	C	14: 105,535,472 (GRCm39)	S253P	probably damaging	Het
Nebl	A	T	2: 17,457,329 (GRCm39)	V77E	probably damaging	Het
Nit1	T	C	1: 171,172,003 (GRCm39)	E65G	probably benign	Het
Ntn4	C	T	10: 93,569,576 (GRCm39)	H430Y	probably benign	Het
Nxpe5	A	T	5: 138,237,586 (GRCm39)	I49F	probably benign	Het
Or10a2	A	G	7: 106,673,935 (GRCm39)	N300S	probably benign	Het
Or10c1	A	G	17: 37,522,084 (GRCm39)	I220T	probably damaging	Het
Or14c46	A	T	7: 85,918,649 (GRCm39)	M116K	probably damaging	Het
Or1e23	A	G	11: 73,407,957 (GRCm39)	Y23H	probably benign	Het
Or1m1	A	T	9: 18,666,886 (GRCm39)	L15*	probably null	Het
Or4k49	T	G	2: 111,495,042 (GRCm39)	L157W	probably damaging	Het
Or52s6	A	T	7: 103,092,204 (GRCm39)	M42K	probably benign	Het
Or7e178	A	G	9: 20,225,494 (GRCm39)	Y241H	probably benign	Het
Oxct2a	T	A	4: 123,217,165 (GRCm39)	N72I	probably damaging	Het
Pappa	G	A	4: 65,242,128 (GRCm39)		probably null	Het
Pcnx1	G	A	12: 82,042,312 (GRCm39)	R34H	possibly damaging	Het
Plekha5	G	T	6: 140,489,648 (GRCm39)	V236L	possibly damaging	Het
Prdm1	A	G	10: 44,332,988 (GRCm39)	S44P	probably benign	Het
Prss46	T	A	9: 110,680,533 (GRCm39)	L226Q	probably benign	Het
Prss47	C	A	13: 65,192,640 (GRCm39)	W380C	probably benign	Het
Ptch2	T	G	4: 116,971,946 (GRCm39)	V1156G	probably benign	Het
Rab3gap2	T	C	1: 185,013,864 (GRCm39)	F1190S	probably damaging	Het
Raver2	T	G	4: 100,960,056 (GRCm39)	Y179D	probably damaging	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Ripor2	T	G	13: 24,888,808 (GRCm39)	I629S	possibly damaging	Het
Robo4	T	A	9: 37,314,001 (GRCm39)	M84K	possibly damaging	Het
Rps6ka5	A	T	12: 100,562,123 (GRCm39)	S252T	possibly damaging	Het
Rtl1	C	T	12: 109,559,221 (GRCm39)	V873M	possibly damaging	Het
Sla	T	A	15: 66,703,420 (GRCm39)	R4W	probably benign	Het
Smco1	A	G	16: 32,092,620 (GRCm39)	D97G	probably damaging	Het
Srgap1	T	C	10: 121,676,753 (GRCm39)	T414A	probably benign	Het
Syt14	A	G	1: 192,717,936 (GRCm39)	I3T	probably benign	Het
Tnpo2	G	A	8: 85,773,766 (GRCm39)	V303M	possibly damaging	Het
Tstd2	A	C	4: 46,119,955 (GRCm39)	S332R	probably damaging	Het
Ttn	C	A	2: 76,582,386 (GRCm39)	A22836S	possibly damaging	Het
Ufl1	A	G	4: 25,250,669 (GRCm39)	V728A	probably benign	Het
Usp33	A	T	3: 152,089,828 (GRCm39)	K789N	possibly damaging	Het
Usp54	T	A	14: 20,638,438 (GRCm39)	Q214L	probably damaging	Het
Vmn2r7	T	G	3: 64,623,198 (GRCm39)	N374T	probably benign	Het
Zbtb7a	T	A	10: 80,980,434 (GRCm39)	N209K	probably damaging	Het
Zc3hav1	A	G	6: 38,306,207 (GRCm39)	V615A	probably benign	Het
Zdhhc20	A	G	14: 58,111,348 (GRCm39)		probably null	Het
Zfp90	G	T	8: 107,151,780 (GRCm39)	V498L	probably damaging	Het

Other mutations in Gpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Gpd1	APN	15	99,618,532 (GRCm39)	missense	probably benign	0.01
IGL01338:Gpd1	APN	15	99,616,056 (GRCm39)	missense	probably damaging	0.98
IGL01947:Gpd1	APN	15	99,618,112 (GRCm39)	missense	possibly damaging	0.64
R0366:Gpd1	UTSW	15	99,617,151 (GRCm39)	missense	probably damaging	1.00
R0551:Gpd1	UTSW	15	99,618,510 (GRCm39)	missense	possibly damaging	0.95
R1789:Gpd1	UTSW	15	99,621,083 (GRCm39)	missense	probably damaging	1.00
R2429:Gpd1	UTSW	15	99,618,488 (GRCm39)	missense	probably benign	0.01
R4130:Gpd1	UTSW	15	99,617,158 (GRCm39)	splice site	probably null
R5218:Gpd1	UTSW	15	99,618,011 (GRCm39)	missense	probably damaging	1.00
R5348:Gpd1	UTSW	15	99,620,021 (GRCm39)	missense	possibly damaging	0.60
R5636:Gpd1	UTSW	15	99,619,939 (GRCm39)	missense	probably benign
R6228:Gpd1	UTSW	15	99,621,146 (GRCm39)	missense	possibly damaging	0.80
R7479:Gpd1	UTSW	15	99,617,984 (GRCm39)	missense	probably benign	0.04
R7508:Gpd1	UTSW	15	99,619,967 (GRCm39)	missense	probably damaging	1.00
R7509:Gpd1	UTSW	15	99,619,967 (GRCm39)	missense	probably damaging	1.00
R7714:Gpd1	UTSW	15	99,619,967 (GRCm39)	missense	probably damaging	1.00
R7716:Gpd1	UTSW	15	99,619,967 (GRCm39)	missense	probably damaging	1.00
R8044:Gpd1	UTSW	15	99,621,083 (GRCm39)	missense	probably damaging	1.00
R9747:Gpd1	UTSW	15	99,618,004 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAAGGCTGATACATGCAGCATG -3'
(R):5'- TCCATCTGAGACAGGGTCTG -3'

Sequencing Primer
(F):5'- TGCAGAAGGCTCCAAGTG -3'
(R):5'- TCTGGCTGCCGGAATACCTG -3'

Posted On

2019-06-26